Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABDH5 mutation
Author:
Publisher
Elsevier BV
Subject
Hepatology
Reference16 articles.
1. A rare cause of non-alcoholic fatty liver disease;Ciesek;Ann Intern Med,2006
2. Ichthyosiform dermatosis with systemic lipidosis;Dorfman;Arch Dermatol,1974
3. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia muscolorum progressiva;Jordan;Acta Med Scand,1953
4. Dorfman–Chanarin syndrome. A case report and a review;Srebrnik;J Am Acad Dermatol,1987
5. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin–Dorfman syndrome;Lefevre;Am J Hum Genet,2001
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